Abstract
The human zona pellucida is composed of four glycoproteins (ZP1, ZP2, ZP3, and ZP4) and has an important role in reproduction. Here we describe a form of infertility with an autosomal recessive mode of inheritance, characterized by abnormal eggs that lack a zona pellucida. We identified a homozygous frameshift mutation in ZP1 in six family members. In vitro studies showed that defective ZP1 proteins and normal ZP3 proteins colocalized throughout the cells and were not expressed at the cell surface, suggesting that the aberrant ZP1 results in the sequestration of ZP3 in the cytoplasm, thereby preventing the formation of the zona pellucida around the oocyte.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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China
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DNA Mutational Analysis
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Egg Proteins / chemistry
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Egg Proteins / genetics*
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Egg Proteins / metabolism*
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Female
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Frameshift Mutation
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Genes, Recessive*
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Heterozygote
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Homozygote
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Humans
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Infertility, Female / genetics*
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Infertility, Female / pathology
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Membrane Glycoproteins / chemistry
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Membrane Glycoproteins / genetics*
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Membrane Glycoproteins / metabolism*
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Ovum / metabolism*
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Ovum / pathology
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Pedigree
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Receptors, Cell Surface / chemistry
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Receptors, Cell Surface / genetics*
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Receptors, Cell Surface / metabolism*
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Zona Pellucida Glycoproteins
Substances
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Egg Proteins
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Membrane Glycoproteins
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Receptors, Cell Surface
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ZP1 protein, human
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ZP2 protein, human
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ZP3 protein, human
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Zona Pellucida Glycoproteins